Variant report

Variant	esv3332968
Chromosome Location	chr13:98223051-98225049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547506101	chr13:98223089-98223090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9556744	chr13:98223123-98223124	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539040831	chr13:98223126-98223127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147167858	chr13:98223178-98223179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575812053	chr13:98223199-98223200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548868111	chr13:98223200-98223201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374528938	chr13:98223205-98223206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189669555	chr13:98223247-98223248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9556745	chr13:98223269-98223270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs61972831	chr13:98223295-98223296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61972832	chr13:98223297-98223298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78492328	chr13:98223298-98223299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148763118	chr13:98223306-98223307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9300422	chr13:98223320-98223321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545863730	chr13:98223393-98223394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552434303	chr13:98223428-98223429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372236788	chr13:98223449-98223450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368519558	chr13:98223456-98223457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142412913	chr13:98223472-98223473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531478759	chr13:98223478-98223479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548407885	chr13:98223500-98223501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74106085	chr13:98223507-98223508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527479238	chr13:98223508-98223509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28502635	chr13:98223519-98223520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373138816	chr13:98223611-98223612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570544919	chr13:98223672-98223673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539432586	chr13:98223687-98223688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549480021	chr13:98223699-98223700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201930935	chr13:98223704-98223705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77641380	chr13:98223707-98223708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553600736	chr13:98223730-98223731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9584605	chr13:98223733-98223734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs202180640	chr13:98223739-98223740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574739749	chr13:98223740-98223741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551195383	chr13:98223741-98223742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71117653	chr13:98223759-98223760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368183829	chr13:98223760-98223761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9556746	chr13:98223766-98223767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201718189	chr13:98223770-98223771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10599299	chr13:98223799-98223800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs68098516	chr13:98223800-98223801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11069266	chr13:98223801-98223802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191773210	chr13:98223826-98223827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183576976	chr13:98223827-98223828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9584606	chr13:98223834-98223835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9584607	chr13:98223836-98223837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34293737	chr13:98223837-98223838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151309171	chr13:98223838-98223839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9584608	chr13:98223842-98223843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71433407	chr13:98223844-98223845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98219800-98223200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:98219800-98223200	Enhancers	Placenta	Placenta
3	chr13:98220000-98223200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:98220000-98223600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:98220200-98223200	Enhancers	Fetal Muscle Leg	muscle
6	chr13:98220200-98223400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:98220400-98223200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr13:98220600-98223200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:98220800-98223600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:98221000-98223200	Enhancers	Ovary	ovary
11	chr13:98221000-98223400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:98221200-98224600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:98221200-98225200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr13:98221200-98225200	Weak transcription	Fetal Intestine Small	intestine
15	chr13:98221400-98223200	Enhancers	Fetal Kidney	kidney
16	chr13:98221400-98234200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:98221600-98223200	Enhancers	NHDF-Ad	bronchial
18	chr13:98221600-98225200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:98221800-98223200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:98221800-98223200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:98221800-98223200	Enhancers	Fetal Stomach	stomach
22	chr13:98222000-98223200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr13:98222000-98223600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:98222200-98223200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:98222200-98223200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:98222200-98223200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:98222200-98223200	Enhancers	Fetal Lung	lung
28	chr13:98222200-98223400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:98222400-98223200	Enhancers	Fetal Brain Male	brain
30	chr13:98222600-98223200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr13:98222600-98229200	Weak transcription	HepG2	liver
32	chr13:98222800-98223200	Enhancers	Fetal Brain Female	brain
33	chr13:98223000-98223200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr13:98223000-98223200	Enhancers	Brain Anterior Caudate	brain
35	chr13:98223000-98223200	Enhancers	Right Atrium	heart
36	chr13:98223000-98223200	Enhancers	Stomach Smooth Muscle	stomach
37	chr13:98223200-98225000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:98223200-98225000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:98223200-98225200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr13:98223200-98225200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:98223200-98225200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:98223200-98225200	Weak transcription	Fetal Lung	lung
43	chr13:98223200-98225200	Weak transcription	NHDF-Ad	bronchial
44	chr13:98223400-98225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:98223400-98225200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr13:98223400-98225200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr13:98223600-98225000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr13:98223600-98225200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr13:98224600-98225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:98225000-98225600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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